The infantile myofibromatosis NOTCH3 L1519P mutation leads to hyperactivated ligand-independent Notch signaling and increased PDGFRB expression

Infantile myofibromatosis (IMF) is a benign tumor form characterized by the development of nonmetastatic tumors in skin, bone, muscle and sometimes viscera. Autosomal-dominant forms of IMF are caused by mutations in the PDGFRB gene, but a family carrying a L1519P mutation in the NOTCH3 gene has also...

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Detalles Bibliográficos
Autores principales: Wu, Dan, Wang, Sailan, Oliveira, Daniel V., Del Gaudio, Francesca, Vanlandewijck, Michael, Lebouvier, Thibaud, Betsholtz, Christer, Zhao, Jian, Jin, ShaoBo, Lendahl, Urban, Karlström, Helena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927659/
https://www.ncbi.nlm.nih.gov/pubmed/33509954
http://dx.doi.org/10.1242/dmm.046300

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